title: Aicardi syndrome associated with autosomal genomic imbalance: coincidence or evidence for autosomal inheritance with sex-limited expression?
abstract: Aicardi syndrome (AIS), a rare neurodevelopmental disorder thought to be caused by an X-linked dominant mutation, is characterized by 3 main features: agenesis of corpus callosum, infantile spams and chorioretinal lacunae. A genome-wide study of a girl with AIS lead us to identify a 6q deletion;12q duplication, derived from a maternal 6q;12q translocation. The two intellectually impaired brothers of the proband showed the same genomic anomalies, but not the constellation of features characterizing the AIS. This could be either a coincidental observation of 2 rare conditions, but can also suggest an alternative hypothesis for the genetic etiology of AIS, indicating the existence of a subset of autosomal genes whose mutation could act in a sex-confined manner.
authors.affiliation: Medical Genetics Unit, University of Perugia, Perugia, Italy ; Department of Experimental Medicine and Biochemical Sciences, University of Perugia, Perugia, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Prontera
authors.forename: A
authors.initials: A
authors.lastname: Bartocci
authors.forename: V
authors.initials: V
authors.lastname: Ottaviani
authors.forename: I
authors.initials: I
authors.lastname: Isidori
authors.forename: D
authors.initials: D
authors.lastname: Rogaia
authors.forename: C
authors.initials: C
authors.lastname: Ardisia
authors.forename: G
authors.initials: G
authors.lastname: Guercini
authors.forename: A
authors.initials: A
authors.lastname: Mencarelli
authors.forename: E
authors.initials: E
authors.lastname: Donti
keywords: Aicardi syndrome; Autosomal inheritance; Genomic disorder; Sex-limited expression